Cognitive impairment, and Splenomegaly

Diseases related with Cognitive impairment and Splenomegaly

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Splenomegaly that can help you solving undiagnosed cases.


Top matches:

Medium match HEMOGLOBIN H DISEASE; HBH


Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003).Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011).While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}.

HEMOGLOBIN H DISEASE; HBH Is also known as alpha-thalassemia, hemoglobin h type|hemoglobin h disease, deletional

Related symptoms:

  • Cognitive impairment
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOGLOBIN H DISEASE; HBH

Medium match CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1


Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989).Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' Genetic Heterogeneity of Benign Recurrent Intrahepatic CholestasisSee also BRIC2 (OMIM ), caused by mutation in the ABCB11 gene (OMIM ) on chromosome 2q24.

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 Is also known as summerskill syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Neoplasm
  • Failure to thrive
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

Medium match GAUCHER DISEASE, TYPE II


Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

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Other less relevant matches:

Medium match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Medium match GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA


Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria|pyroglutamic aciduria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Medium match NIEMANN-PICK DISEASE, TYPE C2; NPC2


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

Medium match X-LINKED LYMPHOPROLIFERATIVE DISEASE


X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Medium match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Medium match SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Top 5 symptoms//phenotypes associated to Cognitive impairment and Splenomegaly

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Splenomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Hemolytic anemia Ataxia Thrombocytopenia Failure to thrive Progressive neurologic deterioration Spasticity Intellectual disability Respiratory failure Jaundice Pneumonia

Rare Symptoms - Less than 30% cases


Fever Delayed speech and language development Dysgammaglobulinemia Aspiration Peripheral neuropathy Myopathy Increased IgM level Histiocytosis Dystonia Muscular dystrophy Dyskinesia Rhabdomyolysis Agammaglobulinemia IgG deficiency Fatigue Sea-blue histiocytosis Recurrent infections Falls Neutropenia Sepsis Tetraparesis Recurrent bacterial infections Spastic tetraparesis Encephalitis Decreased antibody level in blood Immunodeficiency Purpura Aphasia Dementia Neurodegeneration Mental deterioration Paralysis Short stature Cirrhosis Edema Abnormality of the liver Decreased mean corpuscular volume Respiratory distress Dysphagia Neoplasm Increased antibody level in blood Sarcoma Cerebral atrophy Abnormality of immune system physiology Bone marrow hypocellularity Microcytic anemia Vasculitis Meningitis Hodgkin lymphoma Immune dysregulation Myelodysplasia B-cell lymphoma Aplastic anemia Recurrent pharyngitis Cellular immunodeficiency Lymphocytosis Cholelithiasis Hepatic encephalopathy Granulomatosis Chorioretinitis Hydrops fetalis Bronchiectasis Memory impairment Hemiparesis Reduced alpha/beta synthesis ratio Neurofibrillary tangles Loss of speech Supranuclear gaze palsy Visceromegaly Perseveration Vertical supranuclear gaze palsy Cataplexy Bone-marrow foam cells Fetal ascites Motor aphasia Pancytopenia Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Hypersplenism Abnormal hemoglobin Dilatation Lymphadenopathy Hepatic failure Lymphoma Hepatic necrosis Pure red cell aplasia Non-Hodgkin lymphoma Burkitt lymphoma Abnormal bleeding Enlarged tonsils Agranulocytosis Opportunistic infection IgE deficiency Impaired memory B cell generation Gait disturbance Abnormality of the eye Retinopathy Leukemia Hypopigmentation of the skin Hypertriglyceridemia Impaired Ig class switch recombination Subcutaneous nodule Hyperpigmentation of the skin Cafe-au-lait spot Petechiae Autoimmune thrombocytopenia Blepharitis Pulmonary infiltrates Mucopolysacchariduria Chronic myelogenous leukemia Mediastinal lymphadenopathy Absent axillary hair Absence of lymph node germinal center Decreased T cell activation Interstitial pulmonary abnormality Clumsiness Pharyngitis Reduced natural killer cell activity Fulminant hepatitis Diarrhea Weight loss Carcinoma Autoimmunity Otitis media Recurrent otitis media Choreoathetosis Involuntary movements Cholangiocarcinoma Chronic diarrhea Leukoencephalopathy IgA deficiency Hepatocellular carcinoma Recurrent lower respiratory tract infections Gingivitis Cholangitis Stomatitis IgM deficiency Chronic hepatitis Sclerosing cholangitis Prolonged neonatal jaundice Abnormal lung morphology Athetosis Motor axonal neuropathy Intermittent jaundice Chorea Generalized-onset seizure Cardiomegaly Atrial fibrillation EMG abnormality Obsessive-compulsive behavior Abnormality of the musculature Abnormal thrombocyte morphology Aspiration pneumonia Acanthocytosis Dilated cardiomyopathy Tics Personality disorder Abetalipoproteinemia Phonic tics Biliary cirrhosis Conjugated hyperbilirubinemia Intrahepatic cholestasis Tremor Abnormality of coagulation Vomiting Ichthyosis Increased serum bile acid concentration Reduced bone mineral density Hyperreflexia Apnea Developmental regression Ophthalmoplegia Esotropia Oculomotor apraxia Protuberant abdomen Trismus Bulbar signs Recurrent aspiration pneumonia Muscle weakness Feeding difficulties Anxiety Skeletal muscle atrophy Cardiomyopathy Strabismus Behavioral abnormality Intrahepatic cholestasis with episodic jaundice Depressivity Arrhythmia Areflexia Elevated serum creatine phosphokinase Myoclonus Hypertonia Acidosis Oral-pharyngeal dysphagia Increased muscle fatiguability Migraine Exercise intolerance Hyperbilirubinemia Hemiplegia Emotional lability Hearing impairment Acute kidney injury Reticulocytosis Progressive encephalopathy Myoglobinuria Recurrent myoglobinuria Retinal dystrophy Exercise-induced muscle cramps Exercise-induced myoglobinuria Generalized hypotonia Muscular hypotonia Respiratory insufficiency Hemoglobin H Bradykinesia Psychosis Rigidity Stereotypy Muscle cramps Delayed skeletal maturation Nausea Increased reactive oxygen species production Pancreatitis Hypocalcemia Metabolic acidosis Cholestasis Aciduria Pigmentary retinopathy Intention tremor Malabsorption Pruritus Renal tubular acidosis Compensated hemolytic anemia Myalgia Chronic metabolic acidosis Glutathione synthetase deficiency Psychotic mentation Increased level of L-pyroglutamic acid in urine Pain High palate Brachydactyly Renal insufficiency Encephalopathy Visual loss Rod-cone dystrophy Elevated serum acid phosphatase



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